Canonical Allele Identifier: PA2579800891
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu416Ser
CA2579809909
NM_000071.3:c.1246_1247delinsTC
CA2579809910
NM_000071.3:c.1246_1248delinsTCT